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Intestinal toxicity of deoxynivalenol is limited by supplementation with Lactobacillus plantarum JM113 and consequentially altered gut microbiota in broiler chickens 预览
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作者 Shengru Wu Yanli Liu +5 位作者 Yongle Duan Fangyuan Wang Fangshen Guo Fang Yan Xiaojun Yang Xin Yang 《畜牧与生物技术杂志:英文版》 SCIE CAS CSCD 2019年第1期218-230,共13页
Background: Limited research has focused on the effect of Lactobacillus on the intestinal toxicity of deoxynivalenol(DON).The present study was conducted to investigate the role of Lactobacillus plantarum(L.plantarum)... Background: Limited research has focused on the effect of Lactobacillus on the intestinal toxicity of deoxynivalenol(DON).The present study was conducted to investigate the role of Lactobacillus plantarum(L.plantarum) JM113 in protecting against the intestinal toxicity caused by DON.Methods: A total of 144 one-day-old healthy Arbor Acres broilers were randomly distributed into 3 treatments,including the CON(basal diet),the DON(extra 10 mg/kg deoxynivalenol),and the DL(extra 1 × 109 CFU/kg L.plantarum JM113 based on DON group) treatments.The growth performance,organ indexes,intestinal morphology,pancreatic digestive enzymes,intestinal secreted immunoglobulin A(sIgA),jejunal transcriptome,and intestinal microbiota were evaluated.Results: Compared with the CON and DL groups,the DON supplementation altered intestinal morphology,especially in duodenum and jejunum,where villi were shorter and crypts were deeper(P < 0.05).Meanwhile,the significantly decreased mRNA expression of jejunal claudin-1 and occludin(P < 0.05),ileal rBAT and jejunal GLUT1 of 21-day-old broilers(P < 0.05),as well as duodenal PepT1 and ileal rBAT of 42-day-old broilers were identified in the DON group.Moreover,supplementation with L.plantarum JM113 could increase duodenal expression of IL-10 and IL-12 of 21-dayold broilers,ileal s IgA of 42-day-old broilers,and the bursa of Fabricius index of 21-day-old broilers.Further jejunal transcriptome proved that the genes related to the intestinal absorption and metabolism were significantly reduced in the DON group but a significant increase when supplemented with extra L.plantarum JM113.Furthermore,the bacteria related to nutrient utilization,including the Proteobacteria,Escherichia,Cc-115(P < 0.05),Lactobacillus and Prevotella(P < 0.1) were all decreased in the DON group.By contrast,supplementation with L.plantarum JM113 increased the relative abundance of beneficial bacterium,including the Bacteroidetes,Roseburia,Anaerofustis,Anaerostipe,and Ruminococcus bromi(P < 0.05).Specifically,the increased abun 展开更多
关键词 BROILER CHICKENS DEOXYNIVALENOL Gut microbiota Lactobacillus PLANTARUM JM113 mRNA SEQUENCING 16S rRNA gene SEQUENCING
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青海地区结核分枝杆菌异烟肼耐药相关基因突变特征 预览
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作者 王兆芬 申秀丽 +9 位作者 李斌 张媛媛 蒋明霞 陈虹汝 马斌忠 汪海静 李咏雪 王朝才 王卫军 李会茹 《国际药学研究杂志》 CAS 北大核心 2019年第1期71-76,共6页
目的探讨青海地区耐异烟肼结核分枝杆菌的基因突变特征。方法收集198株结核菌,采用比例法检测这些菌株对一线抗结核药物异烟肼(INH)、利福平、链霉素、乙胺丁醇的表型耐药情况,PCR扩增INH耐药相关基因,进行基因测序并分析结果。结果在19... 目的探讨青海地区耐异烟肼结核分枝杆菌的基因突变特征。方法收集198株结核菌,采用比例法检测这些菌株对一线抗结核药物异烟肼(INH)、利福平、链霉素、乙胺丁醇的表型耐药情况,PCR扩增INH耐药相关基因,进行基因测序并分析结果。结果在198株表型耐药受试结核菌中,对INH、利福平、链霉素和乙胺丁醇耐药的菌株分别占45.96%(91/198)、43.94%(87/198)、40.91%(81/198)和30.30%(60/198)。在对其中89株INH耐药和107株INH敏感的共计196株进行的INH耐药相关基因测序分析中,katG315位点、oxyR-ahpC间隔区和pre-inhA基因突变率分别为30.10%(59/196)、9.69%(19/196)和3.57%(7/196)。其中,katG315位点突变率在耐药菌株中为61.80%(55/89),在敏感株中为3.74%(4/107);oxyR-ahpC间隔区突变率在耐药株中为19.10%(17/89),在敏感株中为1.87%(2/107);pre-inhA突变率在突变株中为3.37(3/89),在敏感株中为3.74%(4/107)。结果表明,INH耐药株的katG315位点和oxyR-ahpC间隔区突变率远高于INH敏感菌株,有显著的统计学差异(χ^2=75.105,P<0.001;χ^2=13.456,P<0.001),而INH耐药株的pre-inhA突变率与敏感株相比则无显著差异(χ^2=0.019,P=0.890);katG基因突变检测异烟肼耐药的敏感度为66.29%,特异度为93.46%。结论青海地区结核分枝杆菌的INH耐药率较高,其INH耐药与katG315位点高突变率相关;检测katG位点、oxyR-ahpC间隔区和pre-inhA的基因突变情况可供判断结核分枝杆菌的异烟肼耐药。 展开更多
关键词 结核分枝杆菌 异烟肼 基因突变 基因测序
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基于测序技术的海南地方猪TLR2基因多态性分析
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作者 张艳 刘海隆 +1 位作者 王文秀 黄丽丽 《畜牧与兽医》 北大核心 2019年第7期46-50,共5页
为了解海南地方猪TLR2基因的多态性,本研究采用PCR法从五指山猪、临高猪和屯昌猪3种海南地方猪的血液中克隆Toll样受体2(TLR2)基因,并进行测序及序列分析。结果显示,3种海南地方猪TLR2基因的扩增长度均为2649bp,编码区长2358bp。3种猪T... 为了解海南地方猪TLR2基因的多态性,本研究采用PCR法从五指山猪、临高猪和屯昌猪3种海南地方猪的血液中克隆Toll样受体2(TLR2)基因,并进行测序及序列分析。结果显示,3种海南地方猪TLR2基因的扩增长度均为2649bp,编码区长2358bp。3种猪TLR2基因序列的种内比对结果显示,五指山猪种内有7个核苷酸位点存在多态性,2处位于编码区;屯昌猪种内有5个核苷酸位点存在多态性,均在编码区外;临高猪种内有4个核苷酸位点存在多态性,1处位于编码区。种间比对结果显示3种猪有12个核苷酸位点存在多态性,其中3处为错义突变,导致氨基酸改变。同源性分析结果显示,3种猪的TLR2基因序列高度保守,同源性在99.6%~99.9%之间。蛋白质结构预测分析显示,海南猪TLR2基因在876、1454位点呈现的AG突变均引起了其蛋白质二级结构和三级结构的改变,提示可能存在TLR2功能的变化。本研究填补了海南地方猪TLR2基因多态性空白,为深入研究TLR2基因多态性与猪疫病易感性的关系提供基础研究资料。 展开更多
关键词 海南地方猪 TLR2 基因多态性 基因测序
甘蓝型油菜BnEOD3基因克隆与比较测序分析 预览
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作者 俎峰 李霞 +6 位作者 何晓莹 张国建 张建昆 董云松 王敬乔 束正齐 陈苇 《西南农业学报》 CSCD 北大核心 2019年第1期20-24,共5页
【目的】克隆拟南芥籽粒大小发育母体效应基因EOD3在甘蓝型油菜籽粒中表达的同源基因拷贝,并在大、小籽粒材料间开展序列比较分析。【方法】以1份大籽粒与1份小籽粒种质发育中的籽粒为研究材料,利用RT-PCR克隆发育中籽粒表达的BnEOD3基... 【目的】克隆拟南芥籽粒大小发育母体效应基因EOD3在甘蓝型油菜籽粒中表达的同源基因拷贝,并在大、小籽粒材料间开展序列比较分析。【方法】以1份大籽粒与1份小籽粒种质发育中的籽粒为研究材料,利用RT-PCR克隆发育中籽粒表达的BnEOD3基因拷贝,结合生物信息学手段在大、小籽粒材料间进行差异比较分析。【结果】生物信息学分析发现BnEOD3基因在甘蓝型油菜中有4个同源拷贝(BnaC04g00760D,BnaA05g01200D,BnaC04g50960D,BnaA04g27100D)。其中BnaA04g27100D在大、小籽粒材料发育籽粒中均有表达,且在第114碱基处存在SNP变异(大籽粒为C,小籽粒为G),BnaC04g50960D则仅在小籽粒材料中检测到表达,BnaC04g00760D与BnaA05g01200D基因则在大、小籽粒中均未检测到表达。【结论】BnEOD3基因仅有2个拷贝(BnaA04g27100D和BnaC04g50960D)在发育籽粒中检测到表达,其中BnaA04g27100D在第114碱基处的SNP变异导致氨基酸序列甘氨酸(G)与丙氨酸(A)的氨基酸的差异,可能与大、小籽粒性状有关。 展开更多
关键词 油菜 基因克隆 大籽粒 比较测序 EOD3基因
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乳腺癌癌旁组织特异性表达基因分析 预览
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作者 禹奇超 宋彬 +4 位作者 邹轩轩 王岭 刘德权 李波 马昆 《遗传》 CAS CSCD 北大核心 2019年第7期625-633,共9页
癌症研究中常用癌旁组织(normal tissues adjacent to the tumour,NAT)作对照,而癌旁组织与无肿瘤的正常组织的基因表达谱是有差异的。癌旁组织特异性表达基因的存在通常会干扰传统的转录图谱研究,然而目前关于癌旁与无肿瘤组织的基因... 癌症研究中常用癌旁组织(normal tissues adjacent to the tumour,NAT)作对照,而癌旁组织与无肿瘤的正常组织的基因表达谱是有差异的。癌旁组织特异性表达基因的存在通常会干扰传统的转录图谱研究,然而目前关于癌旁与无肿瘤组织的基因表达谱差异的研究相对较少。本研究对14例乳腺癌患者的癌组织、癌旁组织和对侧正常乳腺组织样本进行高深度RNA测序和分析,发现癌旁组织相比对侧正常乳腺组织有102个差异表达基因。基因富集和蛋白-蛋白互作分析揭示这些差异表达基因显著富集在肿瘤坏死因子(tumour necrosis factor,TNF)和上皮间质转化(epithelial-mesenchymal transition,EMT)等癌症相关的基因集中。通过比较癌旁组织与癌组织、癌旁组织与对侧正常乳腺组织的转录图谱,发现23个癌旁组织特异性高表达的基因,即癌旁特异性激活(tumour-adjacent speci c activation,TASA)基因。这些基因显著富集在TNF基因集中,其中15个是新发现的基因。结果表明,TASA基因在乳腺癌癌旁组织中普遍存在,并且与免疫系统的TNF信号有关。癌旁中存在类肿瘤型表达模式的基因,这些基因可能与肿瘤形成有关,但是往往在肿瘤癌旁成对研究中被遗漏。 展开更多
关键词 乳腺癌 癌旁特异激活基因 RNA测序 基因表达谱
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1例类孟买血型的鉴定及分子机制研究
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作者 赵倩 王振雷 +2 位作者 苏蔓 郭霞 何路军 《临床血液学杂志:输血与检验》 2019年第1期159-161,共3页
H抗原缺乏表现型是指红细胞上完全或部分缺乏H抗原的稀有表现型。H可以出现或不出现在分泌液中。其中,H缺乏的非分泌型被称为孟买型,其个体红细胞和分泌液中均检测不到ABH抗原,而H缺乏的和H部分缺乏的分泌型被称为类孟买型,红细胞表面缺... H抗原缺乏表现型是指红细胞上完全或部分缺乏H抗原的稀有表现型。H可以出现或不出现在分泌液中。其中,H缺乏的非分泌型被称为孟买型,其个体红细胞和分泌液中均检测不到ABH抗原,而H缺乏的和H部分缺乏的分泌型被称为类孟买型,红细胞表面缺乏ABH抗原。 展开更多
关键词 类孟买血型 基因测序 FUT1基因
基因变异检测技术在恶性肿瘤精准医疗中的应用 被引量:1
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作者 张乐吟 孙磊涛 沈敏鹤 《中国肿瘤生物治疗杂志》 CAS CSCD 北大核心 2019年第1期22-28,共7页
恶性肿瘤是严重威胁人类健康和社会发展的重大疾病,寻找科学的方法对其进行诊断、治疗和评估已成为近年来全球最重要的公共卫生问题之一。随着医疗行业的不断发展,传统的肿瘤筛查、防治和预后评估手段在近几年发展迅速。但是考虑到肿瘤... 恶性肿瘤是严重威胁人类健康和社会发展的重大疾病,寻找科学的方法对其进行诊断、治疗和评估已成为近年来全球最重要的公共卫生问题之一。随着医疗行业的不断发展,传统的肿瘤筛查、防治和预后评估手段在近几年发展迅速。但是考虑到肿瘤异质性和患者个体化的特征,精准化的疾病筛查、诊断、治疗等医疗模式将成为未来医疗发展的趋势。肿瘤领域的基因变异检测是精准医疗中重要的组成部分,其应用可涉及早期筛查、复发监测、靶向用药指导、疗效及预后评价等众多环节,但在临床运用中仍存在诸多局限,有待更深入的研究来推动肿瘤精准医疗的发展。本文就近年来基因变异检测技术在恶性肿瘤精准医疗中的发展历程以及应用进展作一介绍。 展开更多
关键词 恶性肿瘤 基因变异检测 基因测序 精准医疗 临床应用
基因分型技术在肿瘤患者ABO疑难血型鉴定中的应用
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作者 胡俊华 李喜莹 +4 位作者 张芃 刘燕明 赵学彬 田胜辰 宫济武 《中国输血杂志》 CAS 2019年第4期342-346,共5页
目的探讨基因分型技术辅助肿瘤患者ABO疑难血型的鉴定以有效避免疾病干扰。方法采用血清学方法与序列特异性引物-聚合酶链式反应(PCR-SSP)法、基因测序技术,对于20例ABO血型正反定型不符的肿瘤患者(其中10名为血液系统恶性肿瘤患者)疑... 目的探讨基因分型技术辅助肿瘤患者ABO疑难血型的鉴定以有效避免疾病干扰。方法采用血清学方法与序列特异性引物-聚合酶链式反应(PCR-SSP)法、基因测序技术,对于20例ABO血型正反定型不符的肿瘤患者(其中10名为血液系统恶性肿瘤患者)疑难标本做鉴定;同时对这些患者的输血效果做回顾性分析。结果本组肿瘤患者的疑难血型标本中,25%(5/20)为A和(或)B抗原减弱,原发病分别为2例MDS、1例前列腺癌,2例AL;45%(9/20)A或B抗体减弱,分别为4例原发病为MM、1例WM、1例AGL、1例肝癌、1例右半结肠癌、1例食管癌;30%(6/20)为ABO亚型:1例Bel09/O02、1例B(A)04/O2、1例B(A)02/B、2例Bel03/O;1例为新的A亚型等位基因:测序结果为797位置发生突变,根据其他位点的突变判断具有A102/O01特点。基因型和血清学表型结果一致率75%(15/20)。60%(12/20)患者接受过输血治疗,均未发生溶血性输血反应,75%(9/12)患者达到了预期输血疗效。结论基因分型技术结合血清学方法应用于肿瘤患者ABO疑难血型鉴定结果准确,且可正确区分血型抗原抗体减弱或亚型。疾病导致ABO抗原抗体减弱的患者输血时可同型输血。 展开更多
关键词 ABO血型 基因分型 疑难血型鉴定 基因测序 肿瘤患者 抗原抗体减弱 ABO亚型
一个黎族α-地中海贫血融合基因遗传家系的鉴定
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作者 胡俊杰 陈鑫苹 +4 位作者 张继业 赵立强 李晓娟 徐卫华 符生苗 《基因组学与应用生物学》 CAS CSCD 北大核心 2019年第4期1525-1531,共7页
鉴定海南黎族人群中发现的一种α-地中海贫血融合基因,并对其家系进行分析,探讨融合基因形成机制及遗传规律。采集先证者及其家系成员外周全血,进行血细胞分析、血红蛋白电泳和地贫常见基因型检测,并采用Gap-PCR法结合特异引物和基因测... 鉴定海南黎族人群中发现的一种α-地中海贫血融合基因,并对其家系进行分析,探讨融合基因形成机制及遗传规律。采集先证者及其家系成员外周全血,进行血细胞分析、血红蛋白电泳和地贫常见基因型检测,并采用Gap-PCR法结合特异引物和基因测序技术对先证者基因型进行鉴定。结果显示先证者基因型为Fusion gene/-α4.2,且该融合基因是由于α珠蛋白基因的α2段与Ψα1段序列发生融合所致。家系遗传分析显示,其祖父基因型为Fusion gene/αα,伯父和父亲的基因型均为Fusion gene/-α4.2,母亲基因型为-α4.2/αwsαws,弟弟基因型为-α4.2/αwsαws。海南省黎族人群中存在有α-地贫融合基因,该发现丰富了黎族地贫基因突变数据库,对遗传咨询及地贫基因诊断和防治具有重要意义。 展开更多
关键词 黎族 血细胞分析 血红蛋白电泳 基因检测 测序
联合线粒体基因测序和导流杂交术在耳聋产前筛查中的应用
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作者 宋春林 陈淑芬 +2 位作者 钟进 吴莉 余凤慈 《中国优生与遗传杂志》 2019年第1期22-24,共3页
目的探讨联合线粒体基因测序和导流杂交术在孕妇耳聋易感基因筛查和产前诊断中的应用价值。方法采用多重PCR和导流杂交术筛查佛山地区8643名产检孕妇3个常见的耳聋易感基因(GJB2、GJB3、SLC26A4),并结合基因测序对阳性样本进行鉴定,并... 目的探讨联合线粒体基因测序和导流杂交术在孕妇耳聋易感基因筛查和产前诊断中的应用价值。方法采用多重PCR和导流杂交术筛查佛山地区8643名产检孕妇3个常见的耳聋易感基因(GJB2、GJB3、SLC26A4),并结合基因测序对阳性样本进行鉴定,并检测线粒体12SrRNA和tRNA基因突变情况。结果发现3个常见耳聋基因突变共257例(3.18%)。其中GJB2基因突变153例(1.78%),且4例(0.05%)为235delC位点纯合突变;SLC26A4基因突变94例(1.09%);GJB3基因突变10例(0.12%)。经基因测序发现线粒体基因突变76例(0.88%),包括一些可疑致病位点和不明致病性的位点,其中m.1555A>G均质突变15例(0.17%)。有4对夫妇均为GJB2基因235delC位点携带者,在知情同意下选择了羊水穿刺行产前诊断,一例胎儿均为纯合突变,3例为杂合突变。结论佛山地区的耳聋基因GJB2携带者最多,联合线粒体基因测序和导流杂交术筛查孕妇耳聋易感基因在耳聋的一级预防中有重要的价值。 展开更多
关键词 耳聋 线粒体DNA 产前诊断 基因测序 导流杂交
Analysis of cultivable aerobic bacterial community composition and screening for facultative sulfate-reducing bacteria in marine corrosive steel 预览
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作者 LI Xiaohong XIAO Hui +7 位作者 ZHANG Wenjun LI Yongqian TANG Xuexi DUAN Jizhou YANG Zhibo WANG Jing GUAN Fang DING Guoqing 《海洋湖沼学报(英文)》 SCIE CAS CSCD 2019年第2期600-614,共15页
Anaerobic, aerobic, and facultative bacteria are all present in corrosive environments. However, as previous studies to address corrosion in the marine environment have largely focused on anaerobic bacteria, limited a... Anaerobic, aerobic, and facultative bacteria are all present in corrosive environments. However, as previous studies to address corrosion in the marine environment have largely focused on anaerobic bacteria, limited attention has been paid to the composition and function of aerobic and facultative bacteria in this process. For analysis in this study, ten samples were collected from rust layers on steel plates that had been immersed in seawater for diff erent periods (i.e., six months and eight years) at Sanya and Xiamen, China. The cultivable aerobic bacterial community structure as well as the number of sulfate-reducing bacteria (SRB) were analyzed in both cases, while the proportion of facultative SRB among the isolated aerobic bacteria in each sample was also evaluated using a novel approach. Bacterial abundance results show that the proportions are related to sea location and immersion time;abundances of culturable aerobic bacteria (CAB) and SRB from Sanya were greater in most corrosion samples than those from Xiamen, and abundances of both bacterial groups were greater in samples immersed for six months than for eight years. A total of 213 isolates were obtained from all samples in terms of CAB community composition, and a phylogenetic analysis revealed that the taxa comprised four phyla and 31 genera. Bacterial species composition is related to marine location;the results show that Firmicutes and Proteobacteria were the dominant phyla, accounting for 98.13% of the total, while Bacillus and Vibrio were the dominant genera, accounting for 53.06% of the total. An additional sixfacultative SRB strains were also screened from the isolates obtained and were found to encompass the genus Vibrio (four strains), Staphylococcus (one strain), and Photobacterium (one strain). It is noteworthy that mentions of Photobacterium species have so far been absent from the literature, both in terms of its membership of the SRB group and its relationship to corrosion. 展开更多
关键词 MARINE corrosive STEEL cultivable AEROBIC BACTERIA FACULTATIVE sulfate-reducing BACTERIA bacterial community composition 16S rRNA gene SEQUENCING
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MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acidinduced spina bifida aperta 预览
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作者 He-Nan Zhang Yi Guo +3 位作者 Wei Ma Jia Xue Wei-Lin Wang Zheng-Wei Yuan 《中国神经再生研究:英文版》 SCIE CAS CSCD 2019年第2期361-368,共8页
O6-methylguanine DNA methyltransferase (MGMT), a DNA repair enzyme, has been reported in some congenital malformations, but it is less frequently reported in neural tube defects. This study investigated MGMT mRNA expr... O6-methylguanine DNA methyltransferase (MGMT), a DNA repair enzyme, has been reported in some congenital malformations, but it is less frequently reported in neural tube defects. This study investigated MGMT mRNA expression and methylation levels in the early embryo and in different embryonic stages, as well as the relationship between MGMT and neural tube defects. Spina bifida aperta was induced in rats by a single intragastric administration of all-trans retinoic acid on embryonic day (E) 10, whereas normal control rats received the same amount of olive oil on the same embryonic day. DNA damage was assessed by detecting γ-H2A.X in spina bifida aperta rats. Real time-polymerase chain reaction was used to examine mRNA expression of MGMT in normal control and spina bifida aperta rats. In normal controls, the MGMT mRNA expression decreased with increasing embryonic days, and was remarkably reduced from E11 to E14, reaching a minimum at E18. In the spina bifida aperta model, γ-H2A.X protein expression was increased, and mRNA expression of MGMT was markedly decreased on E14, E16, and E18. Bisulfite sequencing polymerase chain reaction for MGMT promoter methylation demonstrated that almost all CpG sites in the MGMT promoter remained unmethylated in both spina bifida aperta rats and normal controls, and there was no significant difference in methylation level between the two groups on either E14 or E18. Our results show that DNA damage occurs in spina bifida aperta rats. The mRNA expression of MGMT is downregulated, and this downregulation is independent of promoter DNA methylation. 展开更多
关键词 nerve REGENERATION NEURAL tube defects spina bifida aperta spinal cord ALL-TRANS retinoic acid O6-methylguanine DNA methyltransferase gene expression DNA methylation PROMOTER BISULFITE sequencing polymerase chain reaction NEURAL REGENERATION
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Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report 预览
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作者 Snezana Vujosevic Sanja Medenica +5 位作者 Vesko Vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu Pramod K Mistry 《世界临床病例杂志》 2019年第12期1475-1482,共8页
BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of gl... BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with GBA gene mutations, as well as to identify GBA gene mutation in patients in Montenegro that are diagnosed with GD. CASES SUMMARY Five patients (4 male, 1 female) of type 1 GD (GD1) are reported. The age at diagnosis ranged from 7 to 40. Patients experienced delays of 1-12 years in diagnosis after the original onset of symptoms. The most common mode of presentation was a variable degree of splenomegaly and thrombocytopenia, while other symptoms included bone pain, hepatomegaly, abdominal pain and fatigue. Osteopenia was present in a majority of the patients: 4/5. All patients were found to have an asymptomatic Erlenmeyer flask deformity of the distal femur. On enzyme replacement therapy (ERT), the hematological and visceral parameters showed significant improvement, but no significant progression in bone mineral density was noticed. GBA gene sequencing revealed homozygosity for the N370S mutation in one patient. The genotypes of the other patients were N370S/55bp deletion, N370S/D409H (2 patients), and H255Q/N370S (1 patient). CONCLUSION The phenotypes of the GD1 encountered in Montenegro were severe but all responded well to ERT. 展开更多
关键词 GAUCHER disease LYSOSOMAL storage disorder Glucocerebrosidase GBA gene sequencing GENOTYPE Case REPORT
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中草药调控肠道微生态组成与代谢的研究进展 预览
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作者 王鑫楠 王维维 +1 位作者 辛贵忠 刘丽芳 《中医药学报》 CAS 2019年第4期117-124,共8页
肠道菌群作为对宿主健康至关重要的微生态系统,由大量不同的细菌组成,一旦出现生态失调,将会诱发多种疾病。与此同时,肠道菌群所产生的代谢物在构建微生物群体响应与代谢信号网络中发挥着关键作用。许多中草药对于肠道菌群微生态平衡具... 肠道菌群作为对宿主健康至关重要的微生态系统,由大量不同的细菌组成,一旦出现生态失调,将会诱发多种疾病。与此同时,肠道菌群所产生的代谢物在构建微生物群体响应与代谢信号网络中发挥着关键作用。许多中草药对于肠道菌群微生态平衡具有调节作用,集中表现在调控菌群的组成以及代谢产物。随着基因组学和代谢组学的快速发展,肠道菌群物种组成与代谢物的表征取得了巨大进展,已成为全球的研究热点。本文对近年来中药调控肠道菌群的研究成果与研究技术进行了归纳整理,以期为进一步研究中药调节肠道菌群的作用机制提供参考。 展开更多
关键词 中草药 肠道菌群 微生物组成与代谢 基因测序 代谢组学
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High-throughput sequencing of 16S rRNA amplicons characterizes gut microbiota shift of juvenile sea cucumber Apostichopus japonicus feeding with three antibiotics 预览
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作者 ZHAO Ye WANG Qing +2 位作者 LIU Hui LI Bingjun ZHANG Hongxia 《海洋湖沼学报(英文)》 SCIE CAS CSCD 2019年第5期1714-1725,共12页
Sea cucumber Apostichopus japonicus is an important marine economic species in Asian countries due to its profound nutritional and medicinal value. So far, with the rapid development of intensifi ed artifi cial aquacu... Sea cucumber Apostichopus japonicus is an important marine economic species in Asian countries due to its profound nutritional and medicinal value. So far, with the rapid development of intensifi ed artifi cial aquaculture of sea cucumbers, the use of antibiotics is still an inexpensive and dispensable way to treat pathogenic infections, especially during the nursery phase. However, there is little information on the eff ects of antibiotics on the intestinal microbiota of sea cucumber. Therefore an Illumina based sequencing method was used to examine the intestinal bacterial composition of juvenile A . japonicas following diets with three typical antibiotics (tetracycline, erythromycin, and norfl oxacin) under 15, 30, and 45 d. The fi ndings reveal that diff erent antibiotics have distinct eff ects on the growth performance of juvenile sea cucumbers. However, the richness and diversity of microbiota were barely aff ected by antibiotics but the community composition alterations indicated that the three antibiotics exhibited their respective patterns of reshaping the intestinal bacteria of juvenile sea cucumbers. In common, the abundance of some sensitive genera with helpful functions, such as Thalassotalea , Shewanella , Sulfi tobacter , and Halomonas decreased signifi cantly with exposure to antibiotics and the abundance of multiple potential pathogenic- and suspected antibiotic-resistant microorganisms like Arcobacter , Leucothrix , and Clostridium_sensu_stricto_1 was found increased signifi cantly in the antibiotic groups. These results suggest that low doses of antibiotics could aff ect the composition of the intestinal microbiota of sea cucumbers and might increase the risk of infection of the hosts. This study could help us to explore how antibacterial compounds modify the gut microbiota of sea cucumbers and provide theoretical guidance in hatchery management by scientifi c antibiotic use in sea cucumber mariculture. 展开更多
关键词 gut MICROBIOTA sea CUCUMBER antibiotic 16S rRNA gene ILLUMINA sequencing
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Chemical genomics reveals inhibition of breast cancer lung metastasis by Ponatinib via c-Jun
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作者 Wei Shao Shasha Li +5 位作者 Lu Li Kequan Lin Xinhong Liu Haiyan Wang Huili Wang Dong Wang 《蛋白质与细胞:英文版》 SCIE CAS CSCD 2019年第3期161-177,共17页
Metastasis is the leading cause of human cancer deaths.Unfortunately,no approved drugs are available for antimetastatic treatment.In our study,high-throughput sequencing-based high-throughput screening(HTS^2)and a bre... Metastasis is the leading cause of human cancer deaths.Unfortunately,no approved drugs are available for antimetastatic treatment.In our study,high-throughput sequencing-based high-throughput screening(HTS^2)and a breast cancer lung metastasis(BCLM)-associated gene signature were combined to discover anti-metastatic drugs.After screening of thousands of compounds,we identified Ponatinib as a BCLM inhibitor.Ponatinib significantly inhibited the migration and mammosphere formation of breast cancer cells in vitro and blocked BCLM in multiple mouse models.Mechanistically,Ponatinib represses the expression of BCLM-associated genes mainly through the ERK/c-Jun signaling pathway by inhibiting the transcription of JUN and accelerating the degradation of c-Jun protein.Notably,JUN expression levels were positively correlated with BCLM-associated gene expression and lung metastases in breast cancer patients.Collectively,we established a novel approach for the discovery of anti-metastatic drugs,identified Ponatinib as a new drug to inhibit BCLM and revealed c-Jun as a crucial factor and potential drug target for BCLM.Our study may facilitate the therapeutic treatment of BCLM as well as other metastases. 展开更多
关键词 anti-metastatic drug discovery gene expression signature HIGH-THROUGHPUT sequencing-based HIGH-THROUGHPUT screening PONATINIB BREAST cancer lung metastasis C-JUN
The Application of Realtime Fluorescence Quantitative PCR for Prenatal Screening of Group B Streptococcal Infections 预览
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作者 Changzhi Xu Donglin Zhu +1 位作者 Zhizhi Xie Yun Xi 《医学科学进展杂志(英文)》 2019年第3期12-15,共4页
Objective: In the prenatal screening, several different methods were used to detect the presence of group B streptococcus (GBS) infection, in this assay, the diagnostic value and clinical significance of the applicati... Objective: In the prenatal screening, several different methods were used to detect the presence of group B streptococcus (GBS) infection, in this assay, the diagnostic value and clinical significance of the application of realtime fluorescent PCR were explored. Methods: A total of 86 women with 35-37 weeks pregnancy were enrolled, vaginal secretion samples were collected. Fluorescence PCR, bacterial culture and gene sequencing were used to detect whether there was GBS infection, and the results obtained were compared and analyzed. Results: 10 subjects were detected to be positive for GBS by fluorescence PCR (the positive rate was 11.6%), however, only 4 cases were positive for GBS by bacterial culture method (the positive rate was 4.7%). There was a statistically significant difference in the positive rate between the two methods (P<0.01). Compared with the results of gene sequencing, the detection of GBS infection by fluorescence PCR has an accuracy of 95.2%, and the sensitivity was 90.9% with 100% specificity. Conclusion: The application of realtime fluorescence quantitative PCR for the detection of GBS infection is significantly better than the use of bacterial culture method. Compared with the gold standard method (gene sequencing method), its detection efficiency, accuracy, sensitivity and specificity are relatively high. In summary, PCR for prenatal screening of GBS is worthy of promotion in clinical practice. 展开更多
关键词 STREPTOCOCCUS B FLUORESCENCE QUANTITATIVE PCR BACTERIAL culture Gene SEQUENCING
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多发骨肉瘤的诊疗现状及起源问题初步探讨
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作者 张浩强 鲁亚杰 +3 位作者 李明辉 李旭升 甄平 王臻 《中国骨与关节杂志》 CAS 2019年第1期71-74,共4页
骨肉瘤是青少年最常见的原发恶性骨肿瘤,其起源于成骨间叶细胞,恶性程度极高,男性好发,男女发病率比值为3:2,早期即可转移,预后很差[1-6]。多发骨肉瘤是一种相对少见但侵袭性更强的骨肉瘤,最早于1936年由澳大利亚的Silverman报道[7]。... 骨肉瘤是青少年最常见的原发恶性骨肿瘤,其起源于成骨间叶细胞,恶性程度极高,男性好发,男女发病率比值为3:2,早期即可转移,预后很差[1-6]。多发骨肉瘤是一种相对少见但侵袭性更强的骨肉瘤,最早于1936年由澳大利亚的Silverman报道[7]。定义为患者体内存在两个或者两个以上的骨肉瘤病灶但不伴有肺转移或并内脏转移,也被称为多中心骨肉瘤或者多病灶骨肉瘤[8]。多发骨肉瘤分为两类,最初诊断时发现多病灶即定义为同时里多发骨肉瘤,而在对原发灶有效的初始治疗后患者出现新的病灶则定义为异时型多中心骨肉瘤[9]。由于多发骨肉瘤发病率极低,所以对该疾病的研究相对较少,对其认识以及诊疗方案大都借鉴于单一病灶骨肉瘤研究结果。 展开更多
关键词 多发骨肉瘤 流行病学 诊断 化疗.基因测序 综述
一例大片段重复序列Penta E基因座off-ladder等位基因的测序鉴定
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作者 张应爱 王顺兰 +1 位作者 文小红 张淑芳 《中华医学遗传学杂志》 CAS CSCD 2019年第2期168-170,共3页
目的鉴定一例Penta E基因座的罕见大片段短串联重复序列(short tandem repeat,STR)分型标准外(off ladder,OL)等位基因的序列构成。方法用PowerPlex■21检测系统对一对父女进行STR分型。用Chelex-100法提取其DNA,进行Penta E基因座的PC... 目的鉴定一例Penta E基因座的罕见大片段短串联重复序列(short tandem repeat,STR)分型标准外(off ladder,OL)等位基因的序列构成。方法用PowerPlex■21检测系统对一对父女进行STR分型。用Chelex-100法提取其DNA,进行Penta E基因座的PCR扩增,纯化回收扩增片段后进行克隆测序。结果Penta E基因座检出OL等位基因,根据其片段大小,推测为26等位基因。Penta E基因座中的OL等位基因含有26个[AAAGA]重复,是一个新的等位基因,涉及重复单元完整的重复。结论对于STR分型中出现的分型标准外的等位基因或微变异等位基因宜进行测序分析,对于OL等位基因的正确分型将丰富STRBase数据库,对提高基因座个体识别和亲权鉴定能力具有十分重要的意义。 展开更多
关键词 法医遗传学 微变异等位基因 短串联重复序列 DNA测序 Penta E基因座
儿童血型B抗原性减弱的初步分析及探讨
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作者 任晓艳 马玲 +2 位作者 孙文杰 冯丽 李萌 《中国输血杂志》 CAS 2019年第2期166-168,共3页
目的探讨儿童血型B抗原减弱的原因,以期对今后儿童血型的分子机制进一步研究提供试验性数据。方法对本院2015年6月-2017年1月3例不同年龄段患儿B抗原性减弱的标本进行血清学和Sanger双脱氧DNA分子测序分析。结果 3例B抗原性减弱标本均... 目的探讨儿童血型B抗原减弱的原因,以期对今后儿童血型的分子机制进一步研究提供试验性数据。方法对本院2015年6月-2017年1月3例不同年龄段患儿B抗原性减弱的标本进行血清学和Sanger双脱氧DNA分子测序分析。结果 3例B抗原性减弱标本均为亚型;其中1例Bx型,2例Bw型。结论儿童血型B抗原减弱有可能是亚型造成,在儿童血型鉴定时尤其要重视。 展开更多
关键词 儿童血型 B抗原减弱 血清学检测 基因测序
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